GIANT AXONAL NEUROPATHY - REPORT ON A CASE WITH FOCAL FIBER LOSS

We report on a 5 1/2 year-old boy with chronic progressive polyneuropathy. ataxia. and pyramidal signs. His hair was not curled. Sural nerve biopsy disclosed many axons enlarged by accumulation of 10-nm neurofilaments and a marked variability in the number of myelinated fibers as well as in the amount of axonal enlargements among different fascicles. These findings and the electrophysiological data were consistent with a giant axonal polyneuropathy with a multifocal fiber loss.